Atelosteogenesis Type Iii

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

Genes related to Atelosteogenesis Type Iii

FLNB

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Atelosteogenesis Type Iii

Scoliosis
Micrognathia
Cleft palate
Depressed nasal bridge
Frontal bossing
Talipes equinovarus
Short neck
Malar flattening
Midface retrusion
Severe short stature

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Atelosteogenesis Type Iii Is also known as aoiii, ao3, atelosteogenesis type 3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Atelosteogenesis Type Iii Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
FLNB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FLNB Specificity 100 % Genes 100 %
FLNB. Sequencing of the exons 2-5 and exons 27-33. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FLNB Specificity 100 % Genes 100 %
Larsen Syndrome (sequence analysis of FLNB gene). By CGC Genetics (Portugal). FLNB Specificity 100 % Genes 100 %
Spondylocarpotarsal synostosis (sequence analysis of FLNB gene). By CGC Genetics (Portugal). FLNB Specificity 100 % Genes 100 %
Skeletal dysplasia (NGS panel for 31 genes). By CGC Genetics (Portugal). RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...) View the complete list with 9 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, PEX7, NKX3-2, PTH1R Specificity 4 % Genes 100 %
Larsen syndrome (deletion/duplication analysis on FLNB gene). By CGC Genetics (Portugal). FLNB Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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